Canonical Allele Identifier: CA388884455

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21897157A>C (hg19) ; chr14:g.21428998A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21428998A>C , CM000676.2:g.21428998A>C	GRCh38
NC_000014.8:g.21897157A>C , CM000676.1:g.21897157A>C	GRCh37
NC_000014.7:g.20966997A>C	NCBI36
NG_021249.1:g.13301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.344T>G	ENSP00000406288.3:p.Leu115Arg
ENST00000553651.2:n.2987T>G
ENST00000555962.6:c.-111+2813T>G	ENSP00000495174.1:n.-111+2813T>G
ENST00000557364.6:c.1181T>G	ENSP00000451601.1:p.Leu394Arg
ENST00000642518.1:c.344T>G	ENSP00000496722.1:p.Leu115Arg
ENST00000643048.1:n.1476T>G
ENST00000643469.1:c.1181T>G	ENSP00000495070.1:p.Leu394Arg
ENST00000645140.1:c.1093T>G
ENST00000645929.1:c.344T>G	ENSP00000494402.1:p.Leu115Arg
ENST00000646063.1:c.1268T>G	ENSP00000496565.1:p.Leu423Arg
ENST00000646340.1:c.1187T>G	ENSP00000496730.1:p.Leu396Arg
ENST00000646647.2:c.1181T>G MANE Select	ENSP00000495240.1:p.Leu394Arg
ENST00000399982.6:c.1181T>G	ENSP00000382863.2:p.Leu394Arg
ENST00000430710.7:c.344T>G	ENSP00000406288.3:p.Leu115Arg
ENST00000555962.5:n.150+2813T>G
ENST00000557364.5:c.1181T>G	ENSP00000451601.1:p.Leu394Arg
NM_001170629.1:c.1181T>G	NP_001164100.1:p.Leu394Arg
NM_020920.3:c.344T>G	NP_065971.2:p.Leu115Arg
NM_001170629.2:c.1181T>G MANE Select	NP_001164100.1:p.Leu394Arg
NM_020920.4:c.344T>G	NP_065971.2:p.Leu115Arg